Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders
Congenital central hypothyroidism is caused by mutations in several genes and is characterized by a missing TSH elevation.
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Yamada M et al. (1993) Assignment of human thyrotropin-releasing hormone (TRH) receptor gene to chromosome 8. 
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Matre V et al. (1993) Molecular cloning of a functional human thyrotropin-releasing hormone receptor.
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Bonomi M et al. (2009) A family with complete resistance to thyrotropin-releasing hormone.
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| 4. |
Mitnick M et al. (1972) Enzymatic synthesis of thyrotropin releasing hormone (TRH) by hypothalamic "TRH synthetase".
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Foresti V et al. (1985) Central hypothyroidism: isolated thyrotropin-releasing hormone deficiency or resistance of pituitary thyrotropes?
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| 6. |
Katakami H et al. (1984) Hypothalamic hypothyroidism due to isolated thyrotropin-releasing hormone (TRH) deficiency.
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Niimi H et al. (1982) Congenital isolated thyrotrophin releasing hormone deficiency.
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| 8. |
Orphanet article Orphanet ID 99832
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